Perlman syndrome
syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome
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Perlman syndrome
Summary
Perlman syndrome is a developmental defect during embryogenesis[1]. It draws 19 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #117 of 308).[2]
Key Facts
- Perlman syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- Perlman syndrome's instance of is recorded as rare disease[4].
- Perlman syndrome's instance of is recorded as class of disease[5].
- Perlman syndrome's subclass of is recorded as syndrome[6].
- Perlman syndrome's subclass of is recorded as polymalformative genetic syndrome with increased risk of developing cancer[7].
- Perlman syndrome's subclass of is recorded as overgrowth syndrome[8].
- Perlman syndrome's subclass of is recorded as disease[9].
- Perlman syndrome's MeSH descriptor ID is recorded as C536399[10].
- Perlman syndrome's OMIM ID is recorded as 267000[11].
- Perlman syndrome's KEGG ID is recorded as H01412[12].
- Perlman syndrome's Disease Ontology ID is recorded as DOID:0060476[13].
- Perlman syndrome's Orphanet ID is recorded as 2849[14].
- Perlman syndrome's NCI Thesaurus ID is recorded as C103144[15].
- Perlman syndrome's health specialty is recorded as oncology[16].
- Perlman syndrome's genetic association is recorded as DIS3L2[17].
- Perlman syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060476[18].
- Perlman syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060476[19].
- Perlman syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2849[20].
- Perlman syndrome's UMLS CUI is recorded as C0796113[21].
- Perlman syndrome's ICD-10-CM is recorded as Q87.3[22].
- Perlman syndrome's GARD rare disease ID is recorded as 3936[23].
- Perlman syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[24].
- Perlman syndrome's Mondo ID is recorded as MONDO_0009965[25].
- Perlman syndrome's SNOMED CT ID is recorded as 722231005[26].
- Perlman syndrome's Microsoft Academic ID is recorded as 2777452252[27].
Why It Matters
Perlman syndrome draws 19 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #117 of 308).[2] It has Wikipedia articles in 6 language editions, a strong signal of global cultural recognition.[28] It is known by 12 alternative names across languages and contexts.[29]